Linked Data
ClinVar Variation Id:
478379
dbSNP Id:
rs554676148
gnomAD v2:
3-52426498-A-G
gnomAD v3:
3-52392482-A-G
gnomAD v4:
3-52392482-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52392482A>G , CM000665.2:g.52392482A>G | GRCh38 |
| NC_000003.11:g.52426498A>G , CM000665.1:g.52426498A>G | GRCh37 |
| NC_000003.10:g.52401538A>G | NCBI36 |
| NG_052911.1:g.81164A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420323.7:c.10071A>G MANE Select | ENSP00000401514.2:p.Leu3357= | |
| ENST00000420323.6:c.10071A>G | ENSP00000401514.2:p.Leu3357= | |
| ENST00000480649.1:c.505A>G | ||
| ENST00000486752.5:n.10528A>G | ||
| ENST00000488988.5:n.1857A>G | ||
| ENST00000490713.5:c.771A>G | ENSP00000419071.1:p.Leu257= | |
| NM_015512.4:c.10071A>G | NP_056327.4:p.Leu3357= | |
| XM_011533577.1:c.10140A>G | XP_011531879.1:p.Leu3380= | |
| XM_017006129.1:c.10140A>G | XP_016861618.1:p.Leu3380= | |
| XM_017006130.1:c.10071A>G | XP_016861619.1:p.Leu3357= | |
| XM_017006131.1:c.10014A>G | XP_016861620.1:p.Leu3338= | |
| XR_001740098.1:n.13289A>G | ||
| XR_001740099.1:n.13289A>G | ||
| NM_015512.5:c.10071A>G MANE Select | NP_056327.4:p.Leu3357= |